ESHG
Glasgow, Scotland, UK
10-13 June, 2023
Glasgow, Scotland, UK
10-13 June, 2023
Join us for the
Asuragen, a Bio-Techne brand’s unique and proprietary AmplideX® and QuantideX® chemistries power simple and streamlined solutions for analysis of complex genomic targets.
Visit us at stand #268
Alsh 1, level 0
Sunday, 11 June 12:00 – 13:00 hrs
Virtual Platform: Live Stream & On Demand
This session explores how C9orf72 is a biomarker for Frontotemporal Dementia (FTD) and Amyotrophic Lateral Sclerosis (ALS). We also discuss how the AmplideX C9orf72 Kit* enables accurate detection of expansions in this gene.
Pr. Vincenzo Silani
Professor of Neurology, Department of Neuroscience, IRCCS Istituto Auxologico Italiano
University of Milan Medical School
Pr. Emiliano Giardina
Director of the Laboratory of Genomic Medicine, Fondazione Santa Lucia IRCCS
University of Rome “Tor Vergata”
Accessible Fragment Analysis Instrumentation Allows Resolution of Challenging Genotypes Associated with Pathogenic Repeats, Structural Variants, SNVs and INDELs
In this poster, we challenge the Spectrum Compact CE System (Promega) using difficult gene targets (FMR1, C9orf72, CFTR, and SMN1/2), demonstrating accurate detection of structural variation and GC-rich repeat sizing for clinically relevant genes.